TMEM43 (transmembrane protein 43)

2017-10-01  

Identity

HGNC
TMEM43
LOCATION
3p25.1
LOCUSID
79188
ALIAS
ARVC5,ARVD5,EDMD7,LUMA

Other Information

Locus ID:

NCBI: 79188
MIM: 612048
HGNC: 28472
Ensembl: ENSG00000170876

Variants:

dbSNP: 79188
ClinVar: 79188
TCGA: ENSG00000170876
COSMIC: TMEM43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170876ENST00000306077Q9BTV4
ENSG00000170876ENST00000306077A0A024R2F9
ENSG00000170876ENST00000432444F8WDL3

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27489DSC2GeneDataAnnotationassociated
PA27502DSG2GeneDataAnnotationassociated
PA27505DSPGeneDataAnnotationassociated
PA33357PKP2GeneDataAnnotationassociated
PA446847Arrhythmogenic Right Ventricular DysplasiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
183130222008Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.101
183130222008Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.101
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
213912372011TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.38
182306482008LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.26
212148752011Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.19
227257252013The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.16
198635512010Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.13
245989862015The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.13
253432562014TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.11

Citation

Dessen P

TMEM43 (transmembrane protein 43)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57060/tmem43